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Diagnostic and therapeutic approaches to the management of developmental anomalies of the external genitalia that result in ambiguous sexual differentiation have come under increased scrutiny over the past decade. As a result of the improved understanding of human sexuality and in response to the need to improve the outcomes of individuals affected by the various intersex syndromes, the traditional management of the newborn with sexual ambiguity has evolved considerably over the past several years.
At this year's annual meeting of the American Academy of Pediatrics in Boston, Julie Barthold, MD, FAAP, Peter Lee, MD, PhD, and Thomas Mazur, PsyD, led an open dialogue that focused on intersex syndromes to familiarize and update primary care pediatricians about the controversies surrounding this topic.[1]
Normal sexual differentiation involves the coordinated interaction of chromosomal, gonadal, hormonal, genital, and psychobehavioral factors that come together to produce an individual with male or female sexual characteristics.[1-3] In most cases, the orchestration of the events involved in male and female differentiation results in an individual whose chromosomal, gonadal, hormonal, genital, and psychobehavioral characteristics are in concordance with their male or female sex.
The term "intersex" is used to describe any 1 of a variety of conditions that result from the lack of concordance in any of the developmental factors that determine a male or female sexual appearance or behavior.[1-3] Although the term may be used to describe the lack of concordance in the chromosomal, gonadal, hormonal, genital, and psychobehavioral characteristics of an individual, it is most commonly used to address the developmental anomalies that result in ambiguous differentiation of the external genitalia. The intersex syndromes result in a spectrum of altered sexual differentiation, with genitalia that range in appearance from frankly male to frankly female.
According to the type of gonadal tissue present in an intersex individual, they may be referred to as a true hermaphrodite, a male pseudohermaphrodite, or a female pseudohermaphrodite.[1-3] A true hermaphrodite is an individual who has both testicular and ovarian tissue present in 1 of various possible combinations, including separate and distinct ovary or testes, or complex gonads such as ovotestes. A male pseudohermaphrodite is an individual with testicular tissue but incomplete virilization, so that the external genitalia are ambiguous or more female in appearance. A female pseudohermaphrodite is an individual with ovarian tissue but whose external genitalia are more virilized in appearance.
According to Dr. Lee, parents and family want to know immediately upon the birth of a baby whether their newborn infant is a boy or girl. In the case of the child with ambiguous genitalia, it is generally believed that the attending physician's official pronouncement of the infant's sex can have a significant impact on the parent's and family's understanding and ultimate acceptance of the child's condition. Consequently, the birth of an infant with sexual ambiguity has been traditionally considered a "social emergency," requiring delicacy, knowledge, and understanding in order for the child and family to have a successful long-term outcome.[1-3]
Dr. Mazur noted that in the past, the psychosexual theory of the times led us to believe that doubts promulgated concerning an intersex infant's "true" sex could have devastating consequences for the child's future gender identity and sexual behavior.[1-5] As a result, it was advised that physicians and other medical personnel avoid referring to the child as "he" or "she" but instead use non-explicit terms such as "the baby" or "your infant." Parents were typically advised to withhold naming the infant until appropriate laboratory studies "unmasked" the true sex of the infant.
In most instances, intersex infants were admitted to tertiary care units for appropriate evaluation and treatment. Multidisciplinary care teams consisting of 1 or more pediatric endocrinologists, geneticists, pediatric surgeons, ethicists, social workers, psychologists, psychiatrists, and nurses assumed the responsibility of evaluating and treating the intersex infant throughout the hospitalization.[1] Following the comprehensive evaluation of the infant, the multidisciplinary care team assumed the responsibility of assigning the child a male or female sex and initiated appropriate management, including medical and surgical treatment of the infant.[2,3]
Under most circumstances, parents were provided with only the most basic information about the etiology and/or pathophysiology of their child's ambiguous genital development.[4,5] Detailed explanations of the mechanisms responsible for the ambiguous development of the genitalia were largely avoided in order to "protect" parents and child from information that might produce doubts about the child's true sex. As a result, parents and infant were always assured that the child had only 1 sex, but that genetic, developmental, and hormonal factors had intervened to hide the child's true sexual nature. It was the physician's job to "uncover" the true sex of the child, regardless of any pre-established feelings or beliefs on the part of parents, the child, and/or family members.[4]
Management of the intersex child typically followed a paternalistic approach, with the multidisciplinary care team ultimately deciding on the optimal sex of rearing of the infant.[1-5] Dr. Lee emphasized that in most cases, this was accomplished with no or minimal input from parents. Subsequent treatment consisted of medical care for the underlying condition and surgical intervention to remove any inappropriate gonads and genital tissue so that the infant could look either more appropriately male or female.
According to Dr. Barthold, the multidisciplinary team usually considered a variety of factors in sexual assignment, the most important of which was phallic anatomy.[1-5] Generally, the infant was assigned a sex based on his or her future potential for normal intercourse and reproduction. Male sex assignment therefore depended primarily on phallic size and the estimation of whether the phallic anatomy would allow normal sexual function, especially during intercourse. Most individuals with female pseudohermaphroditism were usually assigned a female sex because of their intact reproductive and child-bearing potential. Most true hermaphrodites and most individuals with male pseudohermaphroditism were assigned a male sex only if phallic anatomy was estimated to be adequate for the child to function sexually as a male in adulthood.
It was generally expected that any medical and/or surgical therapy would be completed by 6-12 months, so that the child would have no reason to consider himself or herself "different" from other youngsters of the same sex.[1-5] Again, it was traditionally held that any doubts about the child's sex could lead to problems with future gender identity, sexual preferences, and sexual behavior once the child became an adult.
Beginning in the late 1980s and early 1990s, intersex individuals started voicing concerns about their treatments and outcomes.[6-9] Reacting initially to society's puritan beliefs that human sexuality is exclusively male or female, their arguments have more recently focused primarily on the lack of disclosure and the misinformation given to intersex individuals and their families. According to Dr. Mazur and others, it was claimed that failure to receive appropriate information about their condition, excessive and repeated examinations, surgical removal of sexually responsive tissues, and disregard of their right to give consent for proper treatment compromised their medical outcome and their individual rights.[1,4,5-9] There has now been intensive lobbying to correct this situation.
Dr. Lee indicated that recent reports on the outcomes of individuals with ambiguous genital development support these concerns. In an evaluation of 39 individuals with perineoscrotal hypospadias reared as men or women, Migeon and colleagues[10] observed that the majority of intersex individuals were satisfied with their body image. Most individuals were heterosexual, and most men (90%) and women (83%) had sexual experiences with a partner. However, 23% of individuals (nearly equal males and females) were dissatisfied that their sex of rearing had been determined by their parents and physicians. In a larger study of 74 adults with a 46 XY karyotype and developmental anomalies of the external genitalia, Migeon and colleagues[11] found that nearly 50% of the individuals assessed had inadequate knowledge about their condition and that almost 50% were also dissatisfied with the information they had received about their condition.
These and other reports, combined with the complaints of intersex individuals and our evolving social, biological, and psychological concepts of human sexuality, have prompted a reappraisal of the management of the child with ambiguous genitalia.[1] Dr. Mazur maintained that the current primary goal of treatment is to promote an individual who is satisfied with their appearance and gender, is gainfully employed, and has a good quality of life. Further, the individual should be able to function sexually, with or without intercourse, and derive satisfaction and pleasure from sexual relations and activities. There should be no evidence of dysphoria or psychopathology resulting from the condition or related treatment(s).
Whereas a consensus on how to achieve these goals has not yet been reached, Dr. Lee and Dr. Mazur emphasized that several concepts should be kept in mind during the infant's evaluation and treatment.[4,5] The management of every child and family needs to be individualized; despite diagnostic similarities, the same approach may not be appropriate for all infants. Sexual development should not be viewed as distinctly male or female; the definition of sex should be expanded to include genetic, chromosomal, gonadal, phenotypic, and behavioral aspects of sexual development.
It is important to remember that a child's sense of maleness and femaleness is not fixed at birth. Parents should be provided with accurate information, geared to their level of understanding, so that they can make appropriate decisions regarding treatment and perhaps even defer decisions about sexual assignment to their child.[1]
The intersex individual and family need continuity of care and ongoing education and support during and after their initial evaluation and diagnosis.[1] Dr. Mazur stressed that information about the child's condition should be provided to the parents and child, when appropriate, at the time of diagnosis and at regular intervals during follow-up visits so that both can receive and retain information about the child's diagnosis and treatment options. He also emphasized that parents should be encouraged to continue such conversations at home so that the "secrecy" and "shame" often associated with these disorders can be avoided.
Unless warranted by the underlying condition, treatment of the infant with ambiguous genital development does not need to occur on an emergency basis. Parents should be given time to digest the plethora of information typically provided to them regarding their child's condition and the options for treatment.[1]
It was acknowledged at the AAP meeting that many questions remain regarding the optimal management of the individual with ambiguous genital development. For example, Dr. Lee stated that it is not readily apparent whether it is appropriate or beneficial for intersex individuals to make their own decisions about their sex assignment, or when such decisions should be made. It is also unclear whether parents should assume the responsibility for making treatment and sex assignment decisions for their infant or child.
Unfortunately, there are no data supporting the appropriateness of the newly revised goals of treatment and/or indicating whether these goals are attainable and should apply to all intersex individuals. Despite these uncertainties, this year's dialogue on intersex conditions made it very clear that only open, frank, and repeated discussions of these issues will result in ultimate resolution.
Warne GL, Kanumakala S. Molecular endocrinology of sex differentiation. Semin Reprod Med. Abstract. Full text available online (subscription required):
http://www.medscape.com/viewarticle/444684 Accessed December 11, 2002.
